Alport syndrome

Abstract

Alport syndrome is the second most common cause of heterozygous hereditary kidney disease that affects the basement membranes, caused by mutations in type IV collagen. Alport syndrome is characterized by progressive nephropathies (hematuria, hypoalbuminemia, hypercholesterolemia, proteinuria, uremia and high blood pressure), sensory deafness accompanied by eye injuries, rarely cases of hereditary leiomyomatosis and kidney cell cancer (HLRCC). Alport syndrome (AS) has three genetic classifications: 1. Linked to the X chromosome (SALX), due to mutations in the COL4A5 gene with damage to the long arm, region 2, band 2 and subband 3 OMIM 301050 of this chromosome, being the most common classification, presenting an incidence greater than 80% of the reported cases. 2. Autosomal recessive (SAAR), due to mutations in both alleles of the COL4A3 or COL4A4 genes, on chromosome 2q35–37 3. Autosomal dominant (SAAD), is caused by a mutation of the COL4A3 or COL4A4 genes. It occurs with a lower incidence. Since in Mexico there is not much research on Alport syndrome, the pathophysiology of the disease, diagnosis, clinical manifestations and histopathology are described with a genetic approach and the treatment consists of the management of the symptomatology and its care.​